HLA-DQ6
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HLA-DQ6 (DQ6) is a human leukocyte antigen serotype within HLA-DQ (DQ) serotype group. The serotype is determined by the antibody recognition of β6 subset of DQ β-chains. The β-chain of DQ isoforms are encoded by HLA-DQB1 locus and DQ6 are encoded by the HLA-DQB1*06 allele group. This group currently contains many common alleles, DQB1*0602 is the most common. HLA-DQ6 and DQB1*06 are almost synonymous in meaning. DQ6 β-chains combine with α-chains, encoded by genetically linked HLA-DQA1 alleles, to form the cis-haplotype isoforms. For DQ6, however, cis-isoform pairing only occurs with DQ1 α-chains. There are many haplotypes of DQ6.
Illustration of HLA-DQ with bound peptide | |||||||||||||||||||||||||
| Polymer type | MHC Class II, DQ cell surface antigen | ||||||||||||||||||||||||
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| Rare haplotypes | |||||||||||||||||||||||||
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Serology
| DQ6 | DQ1 | DQ5 | N | |
| allele | % | % | % | size (N) |
| *0601 | 64 | 23 | 675 | |
| *0602 | 67 | 30 | 1 | 5151 |
| *0603 | 62 | 23 | 2 | 2807 |
| *0604 | 59 | 27 | 2 | 1592 |
| *0605 | 76 | 13 | 358 | |
| *0609 | 48 | 32 | 3 | 149 |
Alleles
Summarize
Perspective
| freq | ||
| ref. | Population | (%) |
| [2] | Indig. Australian Cape York | 31.3 |
| Indig. Australian Kimberly | 30.5 | |
| Nauru | 28.4 | |
| Fiji Viti Levu | 26.3 | |
| India Bombay | 26.3 | |
| Papua New Guinea Lowland | 26.0 | |
| China Guizhou Prov. Miao | 25.9 | |
| Papua New Guinea Madang | 23.1 | |
| Kiribati | 22.6 | |
| Japan | 22.0 | |
| Indonesia Nusa Tenggara | 19.2 | |
| India North Hindus | 18.7 | |
| Japan Hokkaido Wajin | 17.0 | |
| Uttar Pradesh Hindu | 15.1 | |
| PNG Lowland Wosera | 14.1 | |
| Western Samoa & Tokelau | 13.7 | |
| Pakistan Kalash | 13.0 | |
| India Lucknow | 12.9 | |
| China Wuhan | 12.8 | |
| South Korea (4) | 11.4 | |
| PNG Highland | 10.9 | |
| India Delhi | 9.0 | |
| Iran Baloch | 8.0 | |
| Mongolia Khalkha | 5.5 | |
| Lebanon Yuhmur | 4.3 | |
| Tunisia Ghannouch | 4.3 | |
| Poland Wielkopolska | 4.0 | |
| Mexico Mazatecans | 3.5 | |
| Spain E. Andalusia | 2.0 | |
| Italy Central | 1.9 | |
| France South East | 1.6 | |
| England Caucasoid | 1.1 | |
| Ireland South | 0.2 | |
| Italy Sardinia | 0.1 | |
| Brazil Guarani Kaiowa | 0.0 | |
| Cameroon Saa | 0.0 | |
DQB1*0601
DQB1*0601 is generally linked to DQA1*0103 as 6.1 haplotype. This haplotype is more common in Japan and other parts of East Asia.
| freq | ||
| ref. | Population | (%) |
| [2] | Spain Pas Valley | 31.5 |
| Cameroon Saa | 30.8 | |
| Congo Kinshasa Bantu | 30.0 | |
| PNG E. Highlands Goroka | 29.8 | |
| Siberia Ket Lower Yenisey | 29.4 | |
| Spain North Cabuernigo | 28.9 | |
| Russia Arkhangelsk Pomors | 24.7 | |
| Spain North Cantabrian | 24.7 | |
| Ireland South | 19.6 | |
| Belgian (2) | 19.4 | |
| Siberia Kushun Buryat | 18.0 | |
| Finland | 17.1 | |
| Siberia Kets Sulamai Village | 17.0 | |
| Poland Wielkopolska | 16.9 | |
| German Essen | 16.7 | |
| Sp. Basque Arratia Valley | 16.7 | |
| Denmark | 16.6 | |
| France Ceph | 15.7 | |
| Kenya | 14.6 | |
| England Caucasoid | 14.4 | |
| Sweden | 14.1 | |
| France Rennes | 13.8 | |
| Tunisia Matmata Berber | 11.7 | |
| Jordan Amman | 10.7 | |
| Japan Hokkaido Wajin | 10.0 | |
| Saudi A. Guraiat & Hail | 8.4 | |
| Japan Central | 8.2 | |
| Nauru | 8.2 | |
| Georgia Svaneti Svans | 8.1 | |
| France South East | 8.0 | |
| Ethiopia Amhara | 7.7 | |
| Algeria Oran | 7.6 | |
| Slovenia | 7.5 | |
| South Korea (1) | 7.4 | |
| Japan Fukuoka | 6.4 | |
| Pakistan Kalash | 5.8 | |
| China Xinjiang Uygur | 5.4 | |
| Papua New Guinea Lowland | 5.2 | |
| Mongolia Khalkh Ulaanbaatar | 4.9 | |
| Spain Murcia | 4.8 | |
| India Bombay | 4.2 | |
| Japan | 4.0 | |
| Greece (2) | 3.3 | |
| Israel Arabs | 2.3 | |
| Vietnam Hanoi Kinh | 2.0 | |
| Israel Jews | 1.5 | |
| Mongolia Khoton Tarialan | 1.2 | |
| USA Alaska Yupik Natives | 0.8 | |
| Mexico Mixtec Oaxaca | 0.5 | |
| Italy Sardinia pop2 | 0.1 | |
DQB1*0602
DQB1*0602 is commonly linked to DQA1*0102 to form 6.2 haplotype. DQ6.2 and is common from Central Asia into Western Europe, *0602 is also linked to DQA1*0103 in parts of Asia.
| freq | ||
| ref. | Population | (%) |
| [2] | Georgia Svaneti Svans | 14.4 |
| France West | 11.0 | |
| Netherlands | 10.6 | |
| German Essen | 9.2 | |
| Czech Republic | 9.0 | |
| Spain Murcia | 8.7 | |
| Slovakia | 8.4 | |
| Denmark | 8.3 | |
| India Lucknow | 8.3 | |
| Jordan Amman | 8.3 | |
| France Rennes | 8.1 | |
| Poland Wielkopolska | 8.0 | |
| Saudi Arabia Guraiat & Hail | 8.0 | |
| Tunisia Jerba Berber | 7.8 | |
| Uganda Muganda Baganda | 7.4 | |
| Spain North Cantabrian | 7.2 | |
| Finland | 7.1 | |
| France South | 6.9 | |
| China Xinjiang Uygur | 6.5 | |
| Russia Northwest Slavic | 6.0 | |
| Ireland Donegal | 5.3 | |
| Greece (3) | 5.2 | |
| Ireland Northern (2) | 4.9 | |
| Italy Rome | 4.0 | |
| CAR Aka Pygmies | 3.6 | |
| Lebanon Kafar Zubian | 3.2 | |
| Sweden | 2.5 | |
| Thailand | 2.1 | |
| China Wuhan | 1.7 | |
| Japan (2) | 1.0 | |
| South Korea (3) | 0.9 | |
| Malaysia | 0.6 | |
DQB1*0603
DQB1*0603 is commonly linked to DQA1*0103 as 6.3 and is common from Central Asia into Western Europe, *0603 is also linked to DQA1*0102 in parts of Asia. In Europe it is most common in the Netherlands.
| freq | ||
| ref. | Population | (%) |
| [2] | Ethiopia Amhara | 10.7 |
| Rwanda Kigali Hutu and Tutsi | 10.7 | |
| Ethiopia Oromo | 10.2 | |
| Japan | 8.0 | |
| Saudi Arabia Guraiat & Hail | 8.0 | |
| Iran Yazd Zoroastrians | 6.9 | |
| CAR Aka Pygmies | 6.5 | |
| South Korea (2) | 6.5 | |
| Sweden | 6.1 | |
| Netherlands | 5.6 | |
| Uganda Muganda Baganda | 5.3 | |
| Lebanon Niha el Shouff | 4.9 | |
| Denmark | 4.6 | |
| France Rennes | 4.6 | |
| Israel Gaza Palestinians | 3.9 | |
| China Xinjiang Uygur | 3.8 | |
| Algeria1 | 3.5 | |
| Russia Northwest Slavic | 3.5 | |
| England Caucasoid | 3.1 | |
| German Essen | 2.6 | |
| Czech Republic | 2.4 | |
| Greece | 2.0 | |
| India Delhi | 1.8 | |
| Nauru | 1.5 | |
| Finland | 1.4 | |
| Gambia | 0.7 | |
DQB1*0604
DQB1*0604 is found at higher frequencies in parts Africa and Asia and is linked almost exclusively to DQA1*0102 as 6.4. This haplotype is found at its highest Eurasian frequencies in Japan.
| freq | ||
| ref. | Population | (%) |
| [2] | Rwanda Kigali Hutu & Tutsi | 5.7 |
| Kenya | 5.3 | |
| Uganda Muganda Baganda | 5.3 | |
| Congo Kinshasa Bantu | 4.4 | |
| Gambia | 4.4 | |
| Mongolia Tsaatan | 4.2 | |
| South Korea (3) | 3.7 | |
| Cameroon Saa | 3.5 | |
| Slovenia | 3.0 | |
| Tunisia | 3.0 | |
| Zimbabwe Harare Shona | 2.2 | |
| Vietnam Hanoi Kinh | 2.0 | |
| Netherlands | 1.7 | |
| Saudi Arabia Guraiat & Hail | 1.6 | |
| Algeria Oran | 1.5 | |
| Greece (2) | 1.2 | |
| Thailand (2) | 1.2 | |
| Tunisia Matmata Berber | 1.2 | |
| Italy Rome | 1.0 | |
| Spain Granada | 0.7 | |
| Italy Bergamo | 0.6 | |
| Ireland South | 0.2 | |
| China Ürümqi Uygur | 0.0 | |
| USA Alaska Yupik Natives | 0.0 | |
DQB1*0609
DQB1*0609 is found in Africa and proximal regions of Eurasia.
Haplotypes and disease
Summarize
Perspective
Susceptibility to Leptospirosis infection was found associated with undifferentiated DQ6.[3] Whereas DQ6 was protective against death (or need for liver transplantion) in primary sclerosing cholangitis.[4]
DQ6.1
DQA1*0103:DQB1*0601 (DQ6.1) is found at increased frequencies in Asia and is almost absent in Western Europe. It confers protection from narcolepsy,[5] juvenile diabetes,[6][7] Vogt-Koyanagi-Harada (VKH) syndrome,[8] pemphigus vulgaris,[9] multiple sclerosis,[10] myasthenia gravis.
DQ6.2
DQ6.2 (DQA1*0102 : DQB1*0602) is commonly linked to DR15 and as such is part of the HLA B7-DR15-DQ6 haplotype. This haplotype is considered to be the longest multigene haplotype known within the human genome as it covers over 4.7 million nucleotides. The DR15-DQ6.2 haplotype is the most common DR-DQ haplotype in Europe, and approximately 30% of Americans carry at least DQ6.2. The haplotype is even more common in Central Asia.
DQ6.2 associations with disease
For myasthenia gravis, recognition α34-49 of AChR increased with DQ6.2.[11] DQA1*0102 increases risk cervical cancer.[12][13] In multiple sclerosis DQA1*0102 was the most frequent allele and DQB1*0602 increased significantly in the MS patients.[14][15][16]
Protective effects of DQ6.2
In primary biliary cirrhosis DQ6.2 appears to have a negative association with disease.[17] DQ6.2 also appears to have a protective effect in juvenile diabetes.[18][19] DQ6.2 is also protective against infantile spasms in mestizos.[20]
DQ6.3
DQ6.3 (DQA1*0103 : DQB1*0603) is found in northcentral Europe at moderate frequencies, it is a protective against many autoimmune diseases. It also affords some protection to HIV infection.[21]
DQ6.4
DQ6.4 (DQA1*0102 : DQB1*0604) might be associated with thymoma-induced myasthenia gravis.[22]
References
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